PCDHGC4

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Early onset or syndromic epilepsy

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Severe microcephaly

  BIALLELIC, autosomal or pseudoautosomal

Disease associations (Open Targets)

• neurodevelopmental disorder with poor growth and skeletal anomalies

  0.68

• complex neurodevelopmental disorder

  0.37

• hereditary disease

  0.19

• atrial flutter

  0.08

• atrial fibrillation

  0.08

• Down syndrome

  0.02

• microcephaly

  0.02

• ataxia telangiectasia

  0.02

• COVID-19

  0.01

• Intellectual disability

  0.01

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)